PKD2L1

PKD2L1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3TE3, 4GIF
Identifiers
Aliases	PKD2L1 , PCL, PKD2L, PKDL, TRPP3, polycystin 2 like 1, transient receptor potential cation channel
External IDs	OMIM: 604532; MGI: 1352448; HomoloGene: 22946; GeneCards: PKD2L1; OMA:PKD2L1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10q24.31 Start 100,288,149 bp [1] End 100,330,264 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19 C3|19 36.91 cM Start 44,136,076 bp [2] End 44,180,881 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spleen right frontal lobe Brodmann area 9 sperm glomerulus right lung anterior cingulate cortex prefrontal cortex placenta mononuclear cell Top expressed in lumbar subsegment of spinal cord spermatocyte seminiferous tubule embryo embryo anterior horn of spinal cord tongue vallate papilla gastrula spermatid More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding calcium activated cation channel activity muscle alpha-actinin binding calcium channel activity cation transmembrane transporter activity calcium-activated potassium channel activity sodium channel activity cytoskeletal protein binding protein binding alpha-actinin binding cation channel activity identical protein binding sour taste receptor activity Cellular component integral component of membrane cell projection calcium channel complex membrane intracellular membrane-bounded organelle receptor complex plasma membrane cilium cell surface endoplasmic reticulum ciliary membrane cation channel complex non-motile cilium integral component of plasma membrane cytoplasmic vesicle Biological process sodium ion transmembrane transport cellular response to acidic pH cation transport sensory perception of sour taste ion transport protein homotrimerization calcium ion transmembrane transport detection of mechanical stimulus potassium ion transmembrane transport smoothened signaling pathway detection of chemical stimulus involved in sensory perception of sour taste calcium ion transport response to water detection of chemical stimulus involved in sensory perception of taste protein tetramerization protein homotetramerization cellular response to pH inorganic cation transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9033 329064 Ensembl ENSG00000107593 ENSMUSG00000037578 UniProt Q9P0L9 A2A259 RefSeq (mRNA) NM_001253837 NM_016112 NM_181422 RefSeq (protein) NP_001240766 NP_057196 NP_852087 Location (UCSC) Chr 10: 100.29 – 100.33 Mb Chr 19: 44.14 – 44.18 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Polycystic kidney disease 2-like 1 protein also known as transient receptor potential polycystic 2 (TRPP2; formerly TRPP3) is a protein that in humans is encoded by the PKD2L1 gene. ^[5]

Function

TRPP2 is a member of the polycystin protein family. TRPP2 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. TRPP2 may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 functions as a calcium-regulated nonselective cation channel. Alternative splice variants have been described but their full length sequences have not been determined. ^[5]

Interactions

PKD2L1 has been shown to interact with TNNI3. ^[6]

See also

• TRPP

References

1. GRCh38: Ensembl release 89: ENSG00000107593 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037578 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: PKD2L1 polycystic kidney disease 2-like 1".
6. Li Q, Liu Y, Shen PY, Dai XQ, Wang S, Smillie LB, Sandford R, Chen XZ (June 2003). "Troponin I binds polycystin-L and inhibits its calcium-induced channel activation". Biochemistry. 42 (24): 7618–25. doi:10.1021/bi034210a. PMID   12809519.

Further reading

• Geng L, Okuhara D, Yu Z, et al. (2006). "Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif". J. Cell Sci. 119 (Pt 7): 1383–95. doi: 10.1242/jcs.02818 . PMID   16537653.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Li Q, Liu Y, Shen PY, et al. (2003). "Troponin I binds polycystin-L and inhibits its calcium-induced channel activation". Biochemistry. 42 (24): 7618–25. doi:10.1021/bi034210a. PMID   12809519.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Li Q, Liu Y, Zhao W, Chen XZ (2002). "The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation". FEBS Lett. 516 (1–3): 270–8. doi: 10.1016/S0014-5793(02)02513-9 . PMID   11959145. S2CID   1812119.
• Basora N, Nomura H, Berger UV, et al. (2002). "Tissue and cellular localization of a novel polycystic kidney disease-like gene product, polycystin-L". J. Am. Soc. Nephrol. 13 (2): 293–301. doi: 10.1681/ASN.V132293 . PMID   11805156.
• Stayner C, Zhou J (2001). "Polycystin channels and kidney disease". Trends Pharmacol. Sci. 22 (11): 543–6. doi:10.1016/S0165-6147(00)01832-0. PMID   11698076.
• Guo L, Chen M, Basora N, Zhou J (2000). "The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism". Mamm. Genome. 11 (1): 46–50. doi:10.1007/s003350010009. PMID   10602992. S2CID   27177354.
• Veldhuisen B, Spruit L, Dauwerse HG, et al. (2000). "Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)". Eur. J. Hum. Genet. 7 (8): 860–72. doi: 10.1038/sj.ejhg.5200383 . PMID   10602361.
• Chen XZ, Vassilev PM, Basora N, et al. (1999). "Polycystin-L is a calcium-regulated cation channel permeable to calcium ions". Nature. 401 (6751): 383–6. doi:10.1038/43907. PMID   10517637. S2CID   4412921.
• Tsiokas L, Arnould T, Zhu C, et al. (1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. 96 (7): 3934–9. Bibcode:1999PNAS...96.3934T. doi: 10.1073/pnas.96.7.3934 . PMC   22398 . PMID   10097141.
• Wu G, Hayashi T, Park JH, et al. (1999). "Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25". Genomics. 54 (3): 564–8. doi: 10.1006/geno.1998.5618 . PMID   9878261.
• Nomura H, Turco AE, Pei Y, et al. (1998). "Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects". J. Biol. Chem. 273 (40): 25967–73. doi: 10.1074/jbc.273.40.25967 . PMID   9748274.